Canonical Allele Identifier: CA8644520

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188134C= , CM000679.2:g.50188134C=	GRCh38
NG_007400.1:g.18506G= , LRG_1:g.18506G=

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.3223G= MANE Select	NP_000079.2:p.Ala1075=
ENST00000225964.10:c.3223G= MANE Select	ENSP00000225964.6:p.Ala1075=
NM_000088.3:c.3223G= , LRG_1t1:c.3223G=	NP_000079.2:p.Ala1075=
ENST00000225964.9:c.3223G=	ENSP00000225964.5:p.Ala1075=
ENST00000486572.1:n.421G=
ENST00000511732.1:n.547G=
XM_005257058.3:c.2953G=	XP_005257115.2:p.Ala985=
XM_005257058.4:c.2953G=	XP_005257115.2:p.Ala985=
XM_005257059.3:c.2305G=	XP_005257116.2:p.Ala769=
XM_005257059.4:c.2305G=	XP_005257116.2:p.Ala769=
XM_011524341.1:c.3025G=	XP_011522643.1:p.Ala1009=